Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Item
http://www.wikidata.org/entity/Q38831815
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry DiseaseIdentification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsProtein aggregation, misfolding and consequential human neurodegenerative diseases.Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
P2860

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Item
http://www.wikidata.org/entity/Q38831815
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Functional and Clinical Conseq ...... A Mutations in Fabry Disease.
@en
type
label
Functional and Clinical Conseq ...... A Mutations in Fabry Disease.
@en
prefLabel
Functional and Clinical Conseq ...... A Mutations in Fabry Disease.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Functional and Clinical Conseq ...... e A Mutations in Fabry Disease
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698